A novel CUL4B gene variant activating Wnt4/β-catenin signal pathway to karyotype 46, XY female with disorders of sex development

Abstract Background Karyotype 46, XY female disorders of sex development (46, XY female DSD) are congenital conditions due to irregular gonadal development or androgen synthesis or function issues. Genes significantly influence DSD; however, the underlying mechanisms remain unclear. This study ident...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Chunlin Wang, Hong Chen, Qingqing Chen, Yangbin Qu, Ke Yuan, Li Liang, Qingfeng Yan
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2025-01-01
coleção:	Biological Research
Assuntos:	CUL4B Disorders of sex development Complete gonadal dysplasia Gene Wnt4/β-catenin
Acesso em linha:	https://doi.org/10.1186/s40659-024-00583-1
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!